What’s the Big Deal about Sequencing Whole Human Genome at IGH?

We recently broke the news that the Institute of Genomics and Global Health (IGH) sequenced the first whole human genome in Nigeria. We would like to highlight the relevance of this news to the healthcare outcomes of Nigerians, Africans and the world. 

Before we go on, let us clarify a few concepts:

A DNA (deoxyribonucleic acid) is a complex molecule that contains the genetic (heritable and non-inheritable) information of an organism. It is like a long, twisted ladder made up of tiny building blocks called nucleotides. It can be considered as the recipe book for life, which contains all the information needed for living things to exist.

Genes are short sections of DNA that contains instructions for making a specific protein or set of proteins. A gene is like a recipe in a recipe book. Just as a recipe contains instructions on how to make a specific dish, a gene contains instructions for the body on how to make particular proteins or perform specific functions. They determine traits like eye colour, height, voice, etc.

A genome is the complete set of genetic information in an organism. It is like the library that contains all the recipes for that organism, containing instructions on how to make all the proteins needed by the body. The genome encompasses all the information needed to build and maintain the organism. It also contains elements that are not cooking instructions but are still important for cooking such as table of contents, index, tips and techniques (called non-coding DNA).

Sequencing is the process of determining the exact order of the DNA’s building blocks. If you want to read a recipe, you would need to know the order of the ingredients and instructions, and how they are written in the recipe book. This information is used to understand the genes present in a genome, how they work, and how they may affect traits or health.

Following sequencing, scientists analyse genomic data to find patterns, determine the functions of genes, the genetic risk factors for various diseases, and how the body responds to disease situations, among others.

That ACEGID sequenced the first whole human genome on Nigerian soil means that we uncovered the exact order of the human DNA for the first time in Nigeria. With this, new vistas of healthcare opportunities have open for Nigerians and Africans to:

Identify disease-causing genes: By comparing the genomes of healthy and diseased individuals, researchers can identify genetic changes that are associated with specific diseases. This can help detect individuals at risk to particular diseases, thereby facilitating early prevention and/or intervention.

Improve disease prevention and control: By identifying genetic risk factors for diseases like cancer, diabetes and heart diseases, we can develop targeted prevention and intervention strategies.

Develop more effective drugs: With deepened knowledge of body functions, targetted drugs that are more effective and have fewer side effects can be developed.

Advance personalized medicine: Disease treatments can be tailored to individuals’ specific genetic makeup, leading to more effective and less harmful therapies.

Understand African genetic diversity: Since Africa is the cradle of humanity, its diverse population holds a wealth of genetic information. Sequencing African genomes can help unlock valuable insights into human evolution, migration patterns and genetic predispositions to diseases.

Why is this important?

To comprehensively study the differences in human functions, it is best to study samples with the greatest diversity. African genomes have the greatest diversity. Hence, they portend immense potentials in this regard.

However, of the thousands of human genomes already sequenced, less than one out of fifty are from Africans, and they were mostly sequenced outside Africa. These genomes form the basis of our current understanding of body functions, of drug design, vaccine production, etc. The low representation of African genomes in this mix means that we are missing out on a lot of insights.

“We have an audacious goal: we plan to sequence 20,000 African genomes over the next 2 years, working with our collaborators,” said Professor Christian Happi, the Founder and Director of IGH. 

The Illumina NovaSeq X Plus

The Illumina NovaSeq X Plus is the world’s most advanced sequencing platform. IGH’s acquisition of the first piece of this equipment in Africa evidences our commitment to being at the cutting-edge of technology in our quest to advance genomics and healthcare for Africans and all humanity.

The NovaSeq X Plus can sequence more than 20,000 human genomes in a year. 

“We have acquired a second NovaSeq X Plus through the generous donation of Roche,” Happi noted. This will greatly complement our effort across different domains.

With these equipment, African scientists, working with one another and with other collaborators will sequence thousands of human genomes within Africa, generating relevant data that can potentially transform healthcare for all.

It is indeed a new era of genomic research in Africa. Welcome to a new day!

’Fikayo Oyewale